Associated Papers
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert MA et al.
American Journal of Human Genetics, 2024
39043182 (PubMed )
Supplement: mmc3.xlsx › Pathogenic_Variant_Truth_Set
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
38245625 (PubMed )
Supplement: 41598_2024_52357_MOESM1_ESM.xlsx › Sheet1
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Sullivan JM et al.
The Journal of Clinical Investigation, 2020
JAG1 loss‑of‑function mutations contributed to Alagille syndrome in two Chinese families.
Zhang E et al.
Molecular Medicine Reports, 2018
Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.
Tada M et al.
The Febs Journal, 2012
The tetralogy of Fallot-associated G274D mutation impairs folding of the second epidermal growth factor repeat in Jagged-1.
Guarnaccia C et al.
The Febs Journal, 2009
Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling.
Boyer-Di Ponio J et al.
Human Molecular Genetics, 2007
Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.
Boyer J et al.
Human Genetics, 2005
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.
Morrissette JD et al.
Human Molecular Genetics, 2001
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